Case series: The value of fundus autofluorescence in inherited macular disease

To evaluate the diagnostic utility of fundus autofluorescence (FAF) imaging in identifying and characterizing phenotypically classified inherited macular dystrophies. In this way, we aim to provide methods by which eye care practitioners can link FAF imaging and other clinical results or imaging modalities to aid their clinical decision-making.

Phenotypically identified inherited macular dystrophies, including Stargardt disease and related ABCA4 mutations, Best vitelliform dystrophy, pattern dystrophies, and cone and cone-rod dystrophies, are discussed.

We provide evidence that the use of FAF alone and in combination with other clinical results and imaging modalities can assist in the diagnosis of a range of inherited macular dystrophies.